A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3344515



Internal ID19775494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58993696..58994112hg38UCSC Ensembl
chr16:59027600..59028016hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14763094, nssv14769098, nssv14757897
SamplesHG00268, HG02818, NA19240
Known Genes
MethodSequencing
AnalysisRead and contig alignments were done with BLASR. The Celera assembler (8.3rc2) was used to assemble RS II samples (CHM1, CHM13, HG00514, HG00733, NA19240, HG02818, NA19434, HG01352, HG02059, NA12878, and HG04217, and Canu (1.7) was used for Sequel samples (HG02106 and HG00268). Variant calling was performed with SMRT-SV (10.1101/gr.214007.116).
PlatformPacBio RS II P6C4, PacBio Sequel v2.1
CommentsAbsence of a L1 insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3344515
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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